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. 2010 Feb 3;19(3):297–310. doi: 10.1007/s00787-010-0096-6

Table 1.

Genetic variants with a polygenic effect on body weight in humans

SNP Chr Position Nearest gene Sample size in the original publicationa Frequency of the risk allele (risk allele) Effect on BMI in the original publication References
rs2815752 1 72,524,461 NEGR1 32,387 62% (A) +0.10 kg/m² per A alleleb [92]
rs2568958 1 72,537,704 NEGR1 25,344 58% (A) +0.43 kg/m² for AA genotypec [84]
rs10913469 1 176,180,142 SEC16B, RASAL2 25,344 20% (C) +0.50 kg/m² for CC genotypec [84]
rs6548238 2 624,905 TMEM18 32,387 84% (C) +0.26 kg/m² per C alleleb [92]
rs7561317 2 634,953 TMEM18 25,344 84% (G) +0.70 kg/m² for GG genotypec [84]
rs7566605 2 118,552,495 INSIG2 9,881 37% (C) +1.00 kg/m² for CC genotype [121]
rs7647305 3 187,316,984 SFRS10, ETV5, DGKG 25,344 77% (C) +0.54 kg/m² for CC genotypec [84]
rs10938397 4 45,023,455 GNPDA2 32,387 48% (G) +0.19 kg/m² per G alleleb [92]
rs4712652 6 22,186,593 PRL 2,796 41% (A) +0.031 kg/m² per A allele in childrend [126]
rs10508503 10 16,339,956 PTER 2,796 8.5% (C) +0.144 kg/m² per C allele in childrend [126]
rs6265 (V66M) 11 27,636,492 BDNF 25,344 85% (G) +0.67 kg/m² for GG genotypec [84]
rs10838738 11 47,619,625 MTCH2 32,387 34% (G) +0.07 kg/m² per G alleleb [92]
rs7138803 12 48,533,735 BCDIN3D, FAIM2 25,344 37% (A) +0.54 kg/m² for AA genotypec [84]
rs7498665 16 28,790,742 SH2B1 32,387 41% (G) +0.15 kg/m² per G alleleb [92]
rs7498665 16 28,790,742 SH2B1, ATP2A1 25,344 44% (G) +0.45 kg/m² for GG genotypec [84]
rs8050136 16 52,373,776 FTO 25,344 41% (A) +1.07 kg/m² for AA genotypec [84]
rs9939609 16 52,378,028 FTO 38,759 40% (A) +0.40 kg/m² per A allele [95]
rs9939609 16 52,378,028 FTO 32,387 41% (A) +0.33 kg/m² per A alleleb [92]
rs1421085 16 52,358,455 FTO 2,796 40% (C) +0.112 kg/m² per C alleled [126]
rs1424233 16 78,240,251 MAF 2,796 43% (A) +0.091 kg/m² per A allele in childrend [126]
rs1805081 18 19,394,429 NPC1 2,796 44% (A) −0.087 kg/m² per A allele in childrend [126]
rs17782313 18 56,002,077 MC4R 16,876 24% (C) +0.22 kg/m2 per C allele [85]
rs17782313 18 56,002,077 MC4R 32,387 22% (C) +0.22 kg/m² per C alleleb [92]
rs17782313 18 56,002,077 MC4R 2,796 17,5% (C) +0.097 kg/m² per C alleled [126]
rs12970134 18 56,035,730 MC4R 25,344 30% (A) +0.36 kg/m² for AA genotypec [82]
rs52820871 (I251L) 18 56,189,806 MC4R 16,797 0.75% (251L) −0.35 SD of their BMI Z-score per 251L allele [71]
rs2229616 (V103I) 18 56,190,256 MC4R 7,713 2% (103I) −0.48 kg/m² per 103I allele [70]
rs29941 19 39,001,372 CHST8, KCTD15 25,344 70% (C) +0.46 kg/m² for CC genotypec [84]
rs11084753 19 39,013,977 KCTD15 32,387 67% (G) +0.06 kg/m² per G alleleb [92]

aEither in the GWAS or the initial sample

bReported in the population-based cohorts EPIC, FINRISK97, BPPP and METSIM (N = 18,812; [92])

cReported for the Islandic sample (N = 25,344; [84])

dreported for children from the Northern Finland Birth Cohort (N = 5,291; [126]), adapted from [86]

NEGR1: neuronal growth factor regulator 1; SEC16B; cerevisiae, homolog of, B; RASAL2: RAS protein activator like 2; TMEM18: transmembrane protein 18, INSIG2: insulin induced gene 2, SFRS10: splicing factor, arginine/serine-rich, 10; ETV5: ets variant 5; DGKG diacylglycerol kinase, gamma, 90kD, GNPDA2: glucosamine-6-phosphate deaminase 2; PRL: prolactin; PTER: phosphotriesterase related; BDNF: brain derived neurotrophic factor; MTCH2: mitochondrial carrier homolog 2 (C. elegans); BCDIN3D: BCDIN3 domain containing; FAIM2: Fas apoptotic inhibitory molecule 2; SH2B1: SH2B adaptor protein 1; ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; FTO: fat mass and obesity associated; MAF: v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian); NPC1: Niemann-Pick disease, type C1; MC4R: melanocortin 4 receptor; CHST8: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8; KCTD15: potassium channel tetramerisation domain containing 15